UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development

PLoS genetics, 2022-09, Vol.18 (9), p.e1010404-e1010404

2022

Volltextzugriff (PDF)

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes

Experimental and Molecular Medicine, 2024, 56(0), , pp.1750-1762

2024

Volltextzugriff (PDF)

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Journal of human genetics, 2016-11, Vol.61 (11), p.923-929

2016

Volltextzugriff (PDF)

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Annals of Pediatric Endocrinology & Metabolism, 2023, 28(2), , pp.77-86

2023

Volltextzugriff (PDF)

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Annals of Pediatric Endocrinology & Metabolism, 2023, 28(3), , pp.184-192

2023

Volltextzugriff (PDF)

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

Endocrine Connections, 2023-05, Vol.12 (5), p.1-11

2023

Volltextzugriff (PDF)

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Annals of Pediatric Endocrinology & Metabolism, 2024, 29(2), , pp.109-118

2024

Volltextzugriff (PDF)

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease

Journal of human genetics, 2014-05, Vol.59 (5), p.276-279

2014

Volltextzugriff (PDF)

Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia

Biological psychiatry (1969), 2021-07, Vol.90 (1), p.35-46

2021

Volltextzugriff (PDF)

Applications of genomic research in pediatric endocrine diseases

Clinical and experimental pediatrics, 2023-12, Vol.66 (12), p.520-530

2023

Volltextzugriff (PDF)

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Experimental and clinical endocrinology & diabetes, 2019-09, Vol.127 (8), p.538-544

2019

Volltextzugriff (PDF)

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes

Hormone research in paediatrics, 2018-01, Vol.90 (5), p.283-290

2018

Volltextzugriff (PDF)

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

BMC pediatrics, 2021-03, Vol.21 (1), p.108-108, Article 108

2021

Volltextzugriff (PDF)

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing

Investigative and Clinical Urology, 2024, 65(5), , pp.487-493

2024

Volltextzugriff (PDF)

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Endocrine Connections, 2022-02, Vol.11 (2), p.1-9

2022

Volltextzugriff (PDF)

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Annals of pediatric endocrinology & metabolism, 2024-02, Vol.29 (1), p.54-59

2024

Volltextzugriff (PDF)

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Journal of human genetics, 2015-09, Vol.60 (9), p.501-507

2015

Volltextzugriff (PDF)

Bone Mineral Density According to Dual Energy X-ray Absorptiometry is Associated with Serial Serum Alkaline Phosphatase Level in Extremely Low Birth Weight Infants at Discharge

Pediatrics and neonatology, 2017-06, Vol.58 (3), p.251-257

2017

Volltextzugriff (PDF)

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

JIMD reports, 2023-01, Vol.64 (1), p.27-34

2023

Volltextzugriff (PDF)

Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

Journal of genetic medicine, 2018-06, Vol.15 (1), p.17-19

2018

Volltextzugriff (PDF)

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Molecular medicine (Cambridge, Mass.), 2016-01, Vol.22 (1), p.147-155

2016

Volltextzugriff (PDF)

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency

Journal of human genetics, 2015-07, Vol.60 (7), p.395-397

2015

Volltextzugriff (PDF)

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Journal of genetic medicine, 2018-12, Vol.15 (2), p.87-91

2018

Volltextzugriff (PDF)

Visual Hyper-vigilance But Insufficient Mental Representation in Children with Overweight/Obesity: Eventrelated Potential Study with Visual Go/NoGo Test

Pediatric Gastroenterology, 2019, Hepatology & Nutrition, 22(3), , pp.249-261

2019

Volltextzugriff (PDF)

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease

Journal of Korean Medical Science, 2015, 30(4), 199, pp.378-384

2015

Volltextzugriff (PDF)

1 – 25 von 2.054

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.644)
Mit Volltextzugriff
(1.537)

Publikationsform

Artikel
(2.028)
Berichte
(13)
Tagungsberichte
(10)
Bücher
(3)

Sprache

Englisch
(1.646)
Koreanisch
(404)
Japanisch
(5)
Deutsch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(1.049)
Life Sciences & Biomedicine
(934)
Humans
(538)
Female
(342)
Male
(339)
Animals
(227)
Middle Aged
(215)
Adult
(208)
Aged
(138)
Biochemistry & Molecular Biology
(129)
Biological And Medical Sciences
(129)
Mice
(129)
Original
(116)
Medical Sciences
(104)
Physical Sciences
(98)
Pharmacology & Pharmacy
(96)
Oncology
(92)
Chemistry
(79)
Science & Technology - Other Topics
(74)
Proteins
(72)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

EZB Electronic Journals Library
(1.050)
MEDLINE
(738)
Ingenta
(707)
Journals@Ovid Complete
(345)
IngentaConnect Journals
(337)
Elsevier ScienceDirect Journals Complete
(261)
SpringerLink
(212)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(196)
Wiley Online Library Journals
(164)
NUS Single-Journal Subscriptions
(156)
Wiley Online Library
(110)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(105)
Nature Journals
(74)
Taylor & Francis Journals
(54)
Taylor & Francis Journals Complete
(48)
Taylor & Francis
(45)
Oxford Journals
(37)
Oxford Journals 2020 Medicine
(20)
Nexis Uni
(19)
JSTOR All Journals
(18)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease

Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia

Applications of genomic research in pediatric endocrine diseases

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Bone Mineral Density According to Dual Energy X-ray Absorptiometry is Associated with Serial Serum Alkaline Phosphatase Level in Extremely Low Birth Weight Infants at Discharge

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Visual Hyper-vigilance But Insufficient Mental Representation in Children with Overweight/Obesity: Eventrelated Potential Study with Visual Go/NoGo Test

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease

Suchergebnisse filtern